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Explaining my son’s diagnosis: Waardenburg Syndrome and Hearing Loss

Waardenburg Syndrome and Hearing Loss
Our hearing loss journey began the way most do.

Our son Cooper did not pass the hearing screening as an infant. But our story is a little different in that we came across our diagnosis on social media before officially receiving it. Before our son Cooper was born, we didn’t know anything about Waardenburg Syndrome and hearing loss.

When Cooper was born, the entire top portion of his hair was white, and the rest was brown. We thought it was cute, and didn’t give it much thought. A few days after he was born, it was becoming more noticeable. I posted in a mom Facebook group, asking if anyone else had a child born with two different colors of hair. I was truly just curious if it had stayed that way or changed over time. 

One mom’s response changed our world. 

“That white/blonde spot can be a sign of Waardenburg syndrome,” she wrote. “I follow a YouTuber that has it and they say Mila Kunis has it as well. They tend to have the most beautiful eyes. You should look it up and see if he has any of the other characteristics.”

Waardenburg Syndrome, I had never in my life heard of it. As one does, I began Googling, more out of curiosity than concern. I truly didn’t expect that Googling to lead anywhere, but the more I read, the more sure I became that this is what we were dealing with. 

A white swash of hair, incredibly blue and wide-set eyes, hearing loss…it was like I was reading a description of my baby. And at that moment, I knew we’d found our answer. 

“A white swash of hair, incredibly blue and wide set eyes, hearing loss…it was like I was reading a description of my baby.”

A few weeks later, our suspicions were confirmed when Cooper saw a specialist and was diagnosed with profound hearing loss and Waardenburg Syndrome. 

What is Waardenburg Syndrome?

According to the National Organization for Rare Disorders, Waardenburg Syndrome is a genetic condition that affects 1 in 40,000 and makes up two to five percent of hearing loss caused by genetic abnormalities. The most common indicators of the syndrome are hearing loss and lack of pigment in areas of the hair, skin, and eyes (hence the white patch of hair). This lack of pigment is because the genes involved with Waardenburg Syndrome affect pigment-producing cells called melanocytes, leading to a lack of the pigment melanin.  

There are four types of Waardenburg Syndrome, according to HealthLine. The most common is Type 1, and likely the type Cooper has. Type 1 is identified by hearing loss, lack of pigment in certain areas, and wide set eyes. Type 2 differs only in that individuals do not have a large space between the eyes. In Type 3, individuals often also have issues with the upper limbs. Type 4 is accompanied by a bowel problem known as Hirschsprung disease. 

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Last night, I received a message on Coop’s Facebook page. Another new mama facing the same. exact. diagnosis. as us. When I read her words, my heart cracked wide open for two reasons. 1. It brought back many, many feelings from the first few days of Coop's diagnosis, which in some ways feels like a lifetime ago already. 2. It's exactly why I started this page. I want to be able to build a community with other parents of hearing loss and Waardenburg kiddos. I want us each to know we're not alone. And I want the ones farther along in the journey to be able to offer support. Sometimes I worry that I overshare. (Actually, I know I overshare). But the reason for that is for moments like when I opened that message, saw a little one with so much resemblance to my baby, and heard a stranger saying, "Me too. Us too. We're in this together." #thescooponcoop #hearingloss #hearingaids #cochlearimplants #deafkidsrock #waardenburg #waardenburgsyndrome #loveandlanguage #specialneedsparenting #welcometoholland #advocatelikeamother

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What causes Waardenburg Syndrome?

Of course, this was one of our burning questions at the beginning. We wanted to know why Cooper has this condition. Waardenburg is genetic, so it often runs in families. But for us, this wasn’t the case – at least not to our knowledge. 

It’s possible that for us, it was a spontaneous mutation, meaning it began with Cooper. We are still awaiting our genetic testing to answer some of these questions. 

In the meantime, we’ve learned a lot about what causes WaardenburgFor those with Type 1 and Type 3, the condition is inherited dominantly, which means the individual only needs to have been passed on one copy of the gene. Types 2 and 4 can be inherited this way as well, but the genes may also be passed on recessively. In other words, the individual receives two copies of the gene mutation. 

Read more: What having a deaf baby has taught me

Why does Waardenburg Syndrome affect hearing?

Interestingly, the hearing loss aspect of Waardenburg Syndrome is also a result of a lack of melanin. While melanin plays a clear role in the coloring of hair, skin, and eyes, it also plays a role in inner ear function. According to the California Ear Institute, in order for the ear’s cochlea to function, correct melanocyte function is vital. In individuals with Waardenburg Syndrome, the inner ear is sometimes missing what’s called Organs of Corti, which sends sound vibrations to the brain. Individuals also often have less nerve fibers in the inner ear than hearing individuals. 

Living with Waardenburg Syndrome 

There is no “cure” for Waardenburg Syndrome, as most of the effects are merely in the way a person looks. Individuals with profound hearing loss, like Cooper, often opt for cochlear implants. 

As we continue to plan our family, we know there is a 50 percent chance that another child could also have Waardenburg Syndrome, since one of us is likely a carrier. However, this fact doesn’t scare us anymore. There is no dangerous aspect to Waardenburg Syndrome. Having Cooper has taught us that there is beauty in being different. We would love for Cooper to have a sibling just like him. 

Author Details
Beth is a Minnesotan mama to a little boy with profound hearing loss. Outside of writing, she is a full-time web designer and photographer with a passion for CrossFit and small-town living. Visit her personal blog here: